Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness

Jose N Nativi-Nicolau, Chafic Karam, Sami Khella, Mathew S Maurer, Jose N Nativi-Nicolau, Chafic Karam, Sami Khella, Mathew S Maurer

Abstract

Amyloid transthyretin (ATTR) amyloidosis is a clinically heterogeneous and fatal disease that results from deposition of insoluble amyloid fibrils in various organs and tissues, causing progressive loss of function. The objective of this review is to increase awareness and diagnosis of ATTR amyloidosis by improving recognition of its overlapping conditions, misdiagnosis, and multiorgan presentation. Cardiac manifestations include heart failure, atrial fibrillation, intolerance to previously prescribed antihypertensives, sinus node dysfunction, and atrioventricular block, resulting in the need for permanent pacing. Neurologic manifestations include progressive sensorimotor neuropathy (e.g., pain, weakness) and autonomic dysfunction (e.g., erectile dysfunction, chronic diarrhea, orthostatic hypotension). Non-cardiac red flags often precede the diagnosis of ATTR amyloidosis and include musculoskeletal manifestations (e.g., carpal tunnel syndrome, lumbar spinal stenosis, spontaneous rupture of the distal tendon biceps, shoulder and knee surgery). Awareness and recognition of the constellation of symptoms, including cardiac, neurologic, and musculoskeletal manifestations, will help with early diagnosis of ATTR amyloidosis and faster access to therapies, thereby slowing the progression of this debilitating disease.

Keywords: ATTRv; Amyloidosis; Cardiomyopathy; Transthyretin amyloidosis; hATTR.

Conflict of interest statement

Jose N. Nativi-Nicolau reports funding for clinical trials from Pfizer, Akcea Therapeutics, and Eidos; educational grants from Pfizer; and consulting fees from Pfizer, Eidos, Akcea Therapeutics, and Alnylam. Chafic Karam reports consulting/educational activities for Akcea Therapeutics, Alexion, Alnylam, Argenx, Biogen, CSL Behring, Medscape, and Sanofi Genzyme; and has received research grants from Sanofi Genzyme and Akcea Therapeutics. Sami Khella reports honoraria from Akcea Therapeutics and Alnylam. Mathew S. Maurer reports grants from Pfizer and Alnylam; and personal fees from Pfizer, Eidos, GlaxoSmithKline, Prothena, Akcea Therapeutics, and Ionis.

© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.

Figures

Fig. 1
Fig. 1
A constellation of multisystem clinical signs and symptoms increases awareness of amyloid transthyretin (ATTR) amyloidosis. Recognition of non-cardiac symptoms clustered with cardiac and/or neurologic symptoms should prompt diagnostic testing and patient referral to a multidisciplinary team at an amyloidosis expert center
Fig. 2
Fig. 2
Symptoms of ATTR amyloidosis. Patients with ATTR amyloidosis may present with clinical signs or symptoms of cardiomyopathy or progressive polyneuropathy along with musculoskeletal symptoms and signs of autonomic dysfunction. ATTR amyloidosis should be considered for patients with cardiac, neurologic, or musculoskeletal manifestations, particularly when those symptoms suggest multiple organs are affected. ATTR amyloid transthyretin
Fig. 3
Fig. 3
Musculoskeletal manifestations associated with ATTR amyloidosis. Buildup of TTR amyloid fibrils has been detected in tissue-resulting musculoskeletal manifestations, such as carpal tunnel syndrome, spinal stenosis, distal biceps tendon rupture, orthopedic surgery, or idiopathic trigger finger. Patients with ATTR amyloidosis may experience musculoskeletal signs and symptoms years prior to cardiac or neurologic manifestations. ATTR amyloid transthyretin; TTR transthyretin
Fig. 4
Fig. 4
Constellation of symptoms checklist for cardiac ATTR amyloidosis. Healthcare practitioners should evaluate patients with heart failure with preserved ejection fraction for a clinical history of carpal tunnel syndrome or lumbar spinal stenosis, along with progressive neuropathy or autonomic dysfunction. Clustering of these clinical signs and symptoms should prompt screening for cardiac amyloidosis and trigger referral to a multidisciplinary team at an amyloidosis expert center. ATTR amyloid transthyretin

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